Variant report

Variant	rs17359906
Chromosome Location	chr1:173836194-173836195
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:141)
CpG islands
(count:0)
Chromatin interactive
region (count:39)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:141 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr1:173830742-173838152	GM18951	blood:	n/a	n/a
2	POLR2A	chr1:173834360-173838079	U87	brain:	n/a	n/a
3	POLR2A	chr1:173834874-173837687	IMR90	lung:	n/a	n/a
4	TBL1XR1	chr1:173834693-173838215	K562	blood:	n/a	n/a
5	CHD1	chr1:173835208-173838152	GM12878	blood:	n/a	chr1:173836993-173837000 chr1:173837608-173837618 chr1:173837832-173837842
6	POLR2A	chr1:173828332-173838242	K562	blood:	n/a	n/a
7	CCNT2	chr1:173835152-173836326	K562	blood:	n/a	n/a
8	SIN3AK20	chr1:173836166-173838356	K562	blood:	n/a	n/a
9	MYC	chr1:173834772-173838276	K562	blood:	n/a	chr1:173837472-173837482 chr1:173837745-173837755 chr1:173837729-173837739
10	ATF2	chr1:173834423-173837701	H1-hESC	embryonic stem cell:	n/a	n/a
11	POLR2A	chr1:173834558-173837359	U87	brain:	n/a	n/a
12	KAP1	chr1:173835346-173837113	K562	blood:	n/a	n/a
13	ZNF274	chr1:173835636-173836249	K562	blood:	n/a	n/a
14	POLR2A	chr1:173825088-173838434	K562	blood:	n/a	n/a
15	POLR2A	chr1:173827997-173836225	HepG2	liver:	n/a	n/a
16	HEY1	chr1:173836132-173838161	HepG2	liver:	n/a	chr1:173837168-173837177 chr1:173837831-173837846 chr1:173837170-173837179
17	TCF12	chr1:173836168-173838421	A549	lung:	n/a	n/a
18	HEY1	chr1:173834548-173838164	K562	blood:	n/a	chr1:173837168-173837177 chr1:173837831-173837846 chr1:173837170-173837179
19	HEY1	chr1:173834529-173838121	K562	blood:	n/a	chr1:173837168-173837177 chr1:173837831-173837846 chr1:173837170-173837179
20	POLR2A	chr1:173824570-173837689	A549	lung:	n/a	n/a
21	TAF1	chr1:173836002-173838270	H1-hESC	embryonic stem cell:	n/a	n/a
22	TEAD4	chr1:173836175-173838788	K562	blood:	n/a	n/a
23	NR2F2	chr1:173836032-173838564	K562	blood:	n/a	n/a
24	SIN3AK20	chr1:173835624-173838620	MCF-7	breast:	n/a	n/a
25	POLR2A	chr1:173829284-173838362	K562	blood:	n/a	n/a
26	POLR2A	chr1:173829132-173838052	PFSK-1	brain:	n/a	n/a
27	MTA3	chr1:173835567-173838569	GM12878	blood:	n/a	n/a
28	CHD1	chr1:173831798-173837941	IMR90	lung:	n/a	chr1:173836993-173837000 chr1:173837608-173837618 chr1:173837832-173837842
29	POLR2A	chr1:173834511-173838174	Hela-S3	cervix:	n/a	n/a
30	POLR2A	chr1:173829663-173838350	K562	blood:	n/a	n/a
31	POLR2A	chr1:173829737-173838261	PANC-1	pancreas:	n/a	n/a
32	POLR2A	chr1:173834774-173838367	HUVEC	blood vessel:	n/a	n/a
33	POLR2A	chr1:173834452-173838179	HL-60	blood:	n/a	n/a
34	POLR2A	chr1:173829767-173838193	GM12878	blood:	n/a	n/a
35	HCFC1	chr1:173834547-173839270	Hela-S3	cervix:	n/a	n/a
36	POLR2A	chr1:173835613-173837946	HEK293	kidney:	n/a	n/a
37	JUN	chr1:173832403-173840952	K562	blood:	n/a	chr1:173837048-173837062 chr1:173840939-173840951 chr1:173837421-173837430 chr1:173837165-173837178 chr1:173837443-173837452 chr1:173833568-173833581 chr1:173837835-173837844 chr1:173840672-173840683 chr1:173837169-173837178
38	POLR2A	chr1:173835588-173838213	K562	blood:	n/a	n/a
39	POLR2A	chr1:173829700-173838480	GM18505	blood:	n/a	n/a
40	POLR2A	chr1:173834554-173838099	H1-hESC	embryonic stem cell:	n/a	n/a
41	POLR2A	chr1:173830001-173838163	GM12892	blood:	n/a	n/a
42	POLR2A	chr1:173834514-173837754	GM12891	blood:	n/a	n/a
43	PML	chr1:173835759-173838156	K562	blood:	n/a	n/a
44	MAX	chr1:173835535-173838420	A549	lung:	n/a	chr1:173837472-173837482 chr1:173837745-173837755 chr1:173837729-173837739
45	MAX	chr1:173836059-173838304	HCT-116	colon:	n/a	chr1:173837472-173837482 chr1:173837745-173837755 chr1:173837729-173837739
46	POLR2A	chr1:173829120-173838093	GM12892	blood:	n/a	n/a
47	POLR2A	chr1:173828322-173838150	H1-hESC	embryonic stem cell:	n/a	n/a
48	POLR2A	chr1:173829750-173838166	K562	blood:	n/a	n/a
49	POLR2A	chr1:173835905-173836224	H1-hESC	embryonic stem cell:	n/a	n/a
50	SIX5	chr1:173835953-173837697	A549	lung:	n/a	n/a

No data

(count:39 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:145381488..145384463-chr1:173835687..173838502,2	K562	blood:
2	chr1:173835490..173838465-chr17:37025563..37027348,2	K562	blood:
3	chr1:173835621..173837414-chr1:176175490..176177844,2	MCF-7	breast:
4	chr1:173835651..173839404-chr1:173878959..173883807,5	K562	blood:
5	chr1:173442536..173447801-chr1:173833439..173838851,7	K562	blood:
6	chr1:173835440..173837685-chr1:236305367..236307138,2	MCF-7	breast:
7	chr1:173791090..173796578-chr1:173835400..173838797,13	MCF-7	breast:
8	chr1:173834700..173840265-chr1:173989829..173994040,12	K562	blood:
9	chr1:173835088..173837217-chr1:173882626..173885539,2	K562	blood:
10	chr1:149857345..149859059-chr1:173835209..173837381,2	MCF-7	breast:
11	chr1:173789792..173811494-chr1:173827886..173840273,103	K562	blood:
12	chr1:173833761..173839509-chr1:173990118..173994234,9	K562	blood:
13	chr1:173835611..173838091-chr17:39844795..39846421,2	MCF-7	breast:
14	chr1:173442552..173449186-chr1:173835087..173838637,8	MCF-7	breast:
15	chr1:173835310..173837065-chr22:22899988..22902691,2	K562	blood:
16	chr1:173409411..173411609-chr1:173835982..173838430,2	K562	blood:
17	chr1:173682287..173685888-chr1:173836010..173838228,4	MCF-7	breast:
18	chr1:173835391..173837802-chr1:174127164..174130207,3	MCF-7	breast:
19	chr1:173835653..173838766-chr1:174968504..174972418,4	K562	blood:
20	chr1:173684233..173688038-chr1:173834072..173837696,4	K562	blood:
21	chr1:173835079..173837156-chr20:30194174..30197161,2	MCF-7	breast:
22	chr1:173835578..173837680-chr17:57914211..57916743,2	MCF-7	breast:
23	chr1:173835773..173836619-chr12:104350561..104351185,2	Hela-S3	cervix:
24	chr1:173835729..173840438-chr1:174127915..174131019,7	K562	blood:
25	chr1:173684233..173685986-chr1:173834072..173838019,3	K562	blood:
26	chr1:173835118..173837073-chr1:173951885..173954734,2	K562	blood:
27	chr1:173444678..173448018-chr1:173835571..173838629,5	K562	blood:
28	chr1:173792463..173795572-chr1:173835250..173839446,8	MCF-7	breast:
29	chr1:173835905..173838790-chr1:173929682..173932448,3	MCF-7	breast:
30	chr1:173831314..173839948-chr1:173984831..173993131,14	MCF-7	breast:
31	chr1:173832421..173839801-chr1:173885332..173891780,9	MCF-7	breast:
32	chr1:173834428..173840700-chr1:173878764..173885322,14	MCF-7	breast:
33	chr1:173831906..173839548-chr1:173987374..173993282,15	MCF-7	breast:
34	chr1:173835691..173838464-chr11:65269329..65272327,2	K562	blood:
35	chr1:173835516..173837699-chr2:142887430..142889764,2	MCF-7	breast:
36	chr1:173789473..173804179-chr1:173828884..173842109,95	K562	blood:
37	chr1:173833863..173839457-chr1:173910408..173918981,14	MCF-7	breast:
38	chr1:173806912..173810743-chr1:173835161..173838732,5	MCF-7	breast:
39	chr1:173835625..173838583-chr17:59475360..59477954,2	MCF-7	breast:

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SERPINC1-1	chr1:173835315-173837219	NONHSAT007659
2	lnc-SERPINC1-1	chr1:173836129-173836248	NONHSAT007674
3	lnc-SERPINC1-1	chr1:173836129-173836248	NONHSAT007675

No data

Variant related genes	Relation type
ZBTB37	TF binding region
SNORD78	TF binding region
GAS5	TF binding region
ENSG00000204954	Chromatin interaction
ENSG00000062716	Chromatin interaction
ENSG00000267131	Chromatin interaction
ENSG00000173812	Chromatin interaction
ENSG00000236021	Chromatin interaction
ENSG00000120334	Chromatin interaction
ENSG00000185686	Chromatin interaction
ENSG00000143207	Chromatin interaction
ENSG00000077585	Chromatin interaction
ENSG00000168702	Chromatin interaction
ENSG00000233396	Chromatin interaction
ENSG00000236535	Chromatin interaction
ENSG00000152061	Chromatin interaction
ENSG00000252231	Chromatin interaction
ENSG00000135870	Chromatin interaction
ENSG00000251562	Chromatin interaction
ENSG00000264395	Chromatin interaction
ENSG00000117593	Chromatin interaction
ENSG00000002834	Chromatin interaction
ENSG00000220891	Chromatin interaction
ENSG00000116161	Chromatin interaction
ENSG00000184678	Chromatin interaction
ENSG00000267280	Chromatin interaction
ENSG00000201558	Chromatin interaction
ENSG00000117592	Chromatin interaction
ENSG00000121068	Chromatin interaction
ENSG00000184260	Chromatin interaction
ENSG00000076321	Chromatin interaction
ENSG00000117601	Chromatin interaction
ENSG00000224977	Chromatin interaction
ENSG00000203739	Chromatin interaction
ENSG00000227373	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10489894	0.96[ASN][1000 genomes]
rs1535527	0.96[ASN][1000 genomes]
rs16846529	0.96[ASN][1000 genomes]
rs16846541	0.93[ASN][1000 genomes]
rs1969757	0.96[ASN][1000 genomes]
rs2227607	0.89[ASN][1000 genomes]
rs2227609	0.89[ASN][1000 genomes]
rs2295957	0.96[ASN][1000 genomes]
rs35571466	0.96[ASN][1000 genomes]
rs55850069	0.93[EUR][1000 genomes]
rs56064477	0.96[ASN][1000 genomes]
rs56288561	0.89[ASN][1000 genomes]
rs56382804	0.96[ASN][1000 genomes]
rs59675210	0.89[ASN][1000 genomes]
rs61609614	0.96[ASN][1000 genomes]
rs61827869	0.90[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs6667813	0.96[ASN][1000 genomes]
rs6682076	0.96[ASN][1000 genomes]
rs6698314	0.96[ASN][1000 genomes]
rs6700754	0.96[ASN][1000 genomes]
rs72709385	0.89[ASN][1000 genomes]
rs72709390	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72711419	0.96[ASN][1000 genomes]
rs72711421	0.96[ASN][1000 genomes]
rs72711423	0.96[ASN][1000 genomes]
rs72711425	0.89[ASN][1000 genomes]
rs7525115	0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1012384	chr1:173614816-173974426	Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	294 gene(s)	inside rSNPs	diseases
2	nsv831926	chr1:173702403-173894667	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	291 gene(s)	inside rSNPs	diseases
3	esv2757761	chr1:173810642-173955943	Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	264 gene(s)	inside rSNPs	diseases
4	esv2758978	chr1:173810642-173955943	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	264 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:173831800-173837000	Transcr. at gene 5' and 3'	Primary T helper cells PMA-I stimulated	--
2	chr1:173832200-173837000	Transcr. at gene 5' and 3'	K562	blood
3	chr1:173832400-173836600	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
4	chr1:173832400-173837000	Transcr. at gene 5' and 3'	iPS-20b Cell Line	embryonic stem cell
5	chr1:173832600-173836400	Transcr. at gene 5' and 3'	NH-A	brain
6	chr1:173832800-173836400	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr1:173832800-173836600	Transcr. at gene 5' and 3'	iPS-18 Cell Line	embryonic stem cell
8	chr1:173832800-173837000	Transcr. at gene 5' and 3'	A549	lung
9	chr1:173833000-173836200	Transcr. at gene 5' and 3'	HUVEC	blood vessel
10	chr1:173833000-173836400	Transcr. at gene 5' and 3'	NHLF	lung
11	chr1:173833000-173836600	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr1:173833000-173836600	Transcr. at gene 5' and 3'	Osteobl	bone
13	chr1:173833000-173836800	Transcr. at gene 5' and 3'	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr1:173833200-173836200	Transcr. at gene 5' and 3'	HMEC	breast
15	chr1:173833200-173836400	Transcr. at gene 5' and 3'	Muscle Satellite Cultured Cells	--
16	chr1:173833200-173836800	Transcr. at gene 5' and 3'	HUES48 Cell Line	embryonic stem cell
17	chr1:173833200-173837000	Transcr. at gene 5' and 3'	HUES64 Cell Line	embryonic stem cell
18	chr1:173833400-173836200	Transcr. at gene 5' and 3'	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr1:173833400-173836200	Transcr. at gene 5' and 3'	Duodenum Mucosa	Duodenum
20	chr1:173833400-173836200	Transcr. at gene 5' and 3'	Hela-S3	cervix
21	chr1:173833400-173837000	Transcr. at gene 5' and 3'	HUES6 Cell Line	embryonic stem cell
22	chr1:173833600-173836600	Transcr. at gene 5' and 3'	H1 Cell Line	embryonic stem cell
23	chr1:173833600-173836800	Transcr. at gene 5' and 3'	ES-I3 Cell Line	embryonic stem cell
24	chr1:173833600-173836800	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr1:173833600-173837000	Transcr. at gene 5' and 3'	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr1:173833600-173837000	Transcr. at gene 5' and 3'	iPS-15b Cell Line	embryonic stem cell
27	chr1:173833800-173836200	Transcr. at gene 5' and 3'	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr1:173833800-173836200	Transcr. at gene 5' and 3'	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr1:173833800-173836400	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells short term culture	blood
30	chr1:173833800-173836600	Transcr. at gene 5' and 3'	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr1:173833800-173836800	Transcr. at gene 5' and 3'	Dnd41	blood
32	chr1:173833800-173837000	Transcr. at gene 5' and 3'	NHEK	skin
33	chr1:173833800-173838000	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
34	chr1:173834000-173836200	Transcr. at gene 5' and 3'	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr1:173834000-173836200	Transcr. at gene 5' and 3'	Fetal Heart	heart
36	chr1:173834000-173836200	Transcr. at gene 5' and 3'	HSMM	muscle
37	chr1:173834000-173836200	Transcr. at gene 5' and 3'	NHDF-Ad	bronchial
38	chr1:173834000-173836800	Transcr. at gene 5' and 3'	H9 Cell Line	embryonic stem cell
39	chr1:173834200-173836200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr1:173834200-173836200	Transcr. at gene 5' and 3'	HepG2	liver
41	chr1:173834200-173838400	Active TSS	Right Ventricle	heart
42	chr1:173834400-173838400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr1:173834600-173836200	Transcr. at gene 5' and 3'	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr1:173834600-173836200	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr1:173834600-173836200	Transcr. at gene 5' and 3'	Fetal Intestine Large	intestine
46	chr1:173834600-173836200	Active TSS	Fetal Intestine Small	intestine
47	chr1:173834600-173836200	Transcr. at gene 5' and 3'	Rectal Mucosa Donor 29	rectum
48	chr1:173834600-173836200	Transcr. at gene 5' and 3'	HSMMtube	muscle
49	chr1:173834600-173836400	Transcr. at gene 5' and 3'	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr1:173834600-173836400	Transcr. at gene 5' and 3'	Fetal Lung	lung

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