Variant report

Variant	rs7973187
Chromosome Location	chr12:124068015-124068016
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:37)
CpG islands
(count:0)
Chromatin interactive
region (count:22)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:37 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr12:124067955-124068187	GM12878	blood:	n/a	n/a
2	TAF1	chr12:124067866-124068122	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr12:124067933-124068148	HUVEC	blood vessel:	n/a	n/a
4	POLR2A	chr12:124067795-124068115	ECC-1	luminal epithelium:	n/a	n/a
5	MYC	chr12:124067916-124068116	K562	blood:	n/a	n/a
6	IRF1	chr12:124067968-124068196	K562	blood:	n/a	n/a
7	POLR2A	chr12:124067826-124068210	K562	blood:	n/a	n/a
8	POLR2A	chr12:124067843-124068074	H1-hESC	embryonic stem cell:	n/a	n/a
9	POLR2A	chr12:124067783-124068071	Hela-S3	cervix:	n/a	n/a
10	MAX	chr12:124067781-124068403	K562	blood:	n/a	n/a
11	YY1	chr12:124067856-124068045	K562	blood:	n/a	n/a
12	POLR2A	chr12:124067942-124068116	MCF-7	breast:	n/a	n/a
13	POLR2A	chr12:124067915-124068202	K562	blood:	n/a	n/a
14	MYC	chr12:124067816-124068180	K562	blood:	n/a	n/a
15	POLR2A	chr12:124067896-124068063	MCF-7	breast:	n/a	n/a
16	TBP	chr12:124067921-124068149	K562	blood:	n/a	n/a
17	TAF1	chr12:124067882-124068159	Hela-S3	cervix:	n/a	n/a
18	MXI1	chr12:124067929-124068121	HepG2	liver:	n/a	n/a
19	POLR2A	chr12:124068010-124068049	Hela-S3	cervix:	n/a	n/a
20	POLR2A	chr12:124067746-124068192	HepG2	liver:	n/a	n/a
21	HEY1	chr12:124067924-124068131	K562	blood:	n/a	n/a
22	POLR2A	chr12:124067817-124070121	HepG2	liver:	n/a	n/a
23	FOXA2	chr12:124067858-124068357	A549	lung:	n/a	n/a
24	POLR2A	chr12:124067980-124068026	MCF-7	breast:	n/a	n/a
25	POLR2A	chr12:124067815-124070088	Hela-S3	cervix:	n/a	n/a
26	POLR2A	chr12:124067876-124068081	ProgFib	skin:	n/a	n/a
27	POLR2A	chr12:124067848-124068071	H1-hESC	embryonic stem cell:	n/a	n/a
28	UBTF	chr12:124067815-124068125	K562	blood:	n/a	n/a
29	POLR2A	chr12:124067757-124068406	K562	blood:	n/a	n/a
30	ZNF263	chr12:124067791-124068147	HEK293-T-REx	kidney:	n/a	n/a
31	HEY1	chr12:124067924-124068143	HepG2	liver:	n/a	n/a
32	POLR2A	chr12:124067834-124068158	H1-hESC	embryonic stem cell:	n/a	n/a
33	TAF1	chr12:124067784-124068200	H1-hESC	embryonic stem cell:	n/a	n/a
34	TBP	chr12:124067915-124068091	H1-hESC	embryonic stem cell:	n/a	n/a
35	POLR2A	chr12:124067639-124068331	H1-hESC	embryonic stem cell:	n/a	n/a
36	MXI1	chr12:124067740-124070353	SK-N-SH	brain:	n/a	n/a
37	POLR2A	chr12:124067819-124068196	Hela-S3	cervix:	n/a	n/a

No data

(count:22 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:123846000..123850093-chr12:124067189..124070124,4	K562	blood:
2	chr12:123920837..123922890-chr12:124067881..124069805,2	K562	blood:
3	chr12:124063601..124065298-chr12:124067381..124068906,2	MCF-7	breast:
4	chr12:123844989..123847500-chr12:124065839..124068689,2	K562	blood:
5	chr12:123716734..123718943-chr12:124067701..124069242,2	MCF-7	breast:
6	chr12:123867374..123868909-chr12:124067489..124069464,2	K562	blood:
7	chr12:124067567..124070616-chr12:124116717..124118360,3	K562	blood:
8	chr12:123868517..123870959-chr12:124065640..124068402,2	MCF-7	breast:
9	chr12:124067302..124072457-chr12:124084684..124088760,8	K562	blood:
10	chr12:124067363..124072745-chr12:124084857..124088217,7	K562	blood:
11	chr12:123941578..123944282-chr12:124067320..124071098,9	MCF-7	breast:
12	chr12:124018210..124020140-chr12:124067644..124069375,2	MCF-7	breast:
13	chr12:123846861..123850261-chr12:124066655..124071408,9	MCF-7	breast:
14	chr12:124061381..124063530-chr12:124065781..124068384,3	K562	blood:
15	chr12:124067553..124070106-chr12:124116767..124119854,4	MCF-7	breast:
16	chr12:123772921..123775686-chr12:124067248..124068947,2	K562	blood:
17	chr12:123870366..123875219-chr12:124064500..124069174,6	K562	blood:
18	chr12:124066647..124068350-chr12:124118155..124119898,2	K562	blood:
19	chr12:123847713..123850022-chr12:124067528..124071055,3	MCF-7	breast:
20	chr12:124018224..124020563-chr12:124065688..124070487,5	K562	blood:
21	chr12:123872778..123876196-chr12:124065295..124071344,6	MCF-7	breast:
22	chr12:123873719..123876506-chr12:124067448..124069174,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-EIF2B1-1	chr12:124066709-124068936	NONHSAT031599

No data

Variant related genes	Relation type
TMED2	TF binding region
ENSG00000111364	Chromatin interaction
ENSG00000184209	Chromatin interaction
ENSG00000188026	Chromatin interaction
ENSG00000256092	Chromatin interaction
ENSG00000183955	Chromatin interaction
ENSG00000111358	Chromatin interaction
ENSG00000130921	Chromatin interaction
ENSG00000150977	Chromatin interaction
ENSG00000139697	Chromatin interaction
ENSG00000051825	Chromatin interaction
ENSG00000270113	Chromatin interaction
ENSG00000111361	Chromatin interaction

Extended variants
information (count: 81 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:74)

rs_ID	r²[population]
rs11057302	0.88[AFR][1000 genomes]
rs11572911	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11572928	0.92[EUR][1000 genomes]
rs11572929	0.92[EUR][1000 genomes]
rs11572931	0.92[EUR][1000 genomes]
rs11572938	0.92[EUR][1000 genomes]
rs11572956	0.92[EUR][1000 genomes]
rs11572962	0.92[EUR][1000 genomes]
rs11572992	0.92[EUR][1000 genomes]
rs11573002	0.92[EUR][1000 genomes]
rs11573005	0.92[EUR][1000 genomes]
rs11573006	0.92[EUR][1000 genomes]
rs11610013	0.89[AFR][1000 genomes]
rs11829661	0.91[AFR][1000 genomes]
rs11831129	1.00[EUR][1000 genomes]
rs11834369	0.81[AFR][1000 genomes]
rs11837236	0.88[AFR][1000 genomes]
rs12099985	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12099986	0.88[AFR][1000 genomes]
rs1568031	0.92[EUR][1000 genomes]
rs17881657	0.92[EUR][1000 genomes]
rs1877365	0.86[AFR][1000 genomes]
rs1913847	0.92[EUR][1000 genomes]
rs2340691	0.83[AFR][1000 genomes]
rs28627432	0.92[EUR][1000 genomes]
rs28743126	0.92[EUR][1000 genomes]
rs35917561	0.92[EUR][1000 genomes]
rs3850953	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4534668	0.92[EUR][1000 genomes]
rs56816130	0.92[EUR][1000 genomes]
rs58680194	0.92[EUR][1000 genomes]
rs59279556	0.92[EUR][1000 genomes]
rs60422010	0.92[EUR][1000 genomes]
rs60577371	0.92[EUR][1000 genomes]
rs61082817	0.92[EUR][1000 genomes]
rs6488881	0.82[AFR][1000 genomes]
rs6488882	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6488885	1.00[EUR][1000 genomes]
rs6488886	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6488889	1.00[EUR][1000 genomes]
rs7134190	1.00[EUR][1000 genomes]
rs7136101	0.83[AFR][1000 genomes]
rs7301031	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7301377	0.88[AFR][1000 genomes]
rs7303554	0.88[AFR][1000 genomes]
rs7306906	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73416265	0.92[EUR][1000 genomes]
rs73416269	0.92[EUR][1000 genomes]
rs73416277	0.92[EUR][1000 genomes]
rs73416283	1.00[EUR][1000 genomes]
rs73416298	0.92[EUR][1000 genomes]
rs73416299	0.92[EUR][1000 genomes]
rs73416301	0.92[EUR][1000 genomes]
rs73418103	0.92[EUR][1000 genomes]
rs73418104	0.92[EUR][1000 genomes]
rs73418107	0.92[EUR][1000 genomes]
rs73418114	0.92[EUR][1000 genomes]
rs73418125	0.92[EUR][1000 genomes]
rs73418139	0.92[EUR][1000 genomes]
rs73418153	0.92[EUR][1000 genomes]
rs73418167	0.92[EUR][1000 genomes]
rs73418179	0.92[EUR][1000 genomes]
rs7954782	0.86[AFR][1000 genomes]
rs7958153	0.88[AFR][1000 genomes]
rs7960812	0.81[AFR][1000 genomes]
rs7964934	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7965292	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7968040	0.85[AFR][1000 genomes]
rs7968699	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7970545	0.88[AFR][1000 genomes]
rs7971779	0.88[AFR][1000 genomes]
rs7973689	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7974138	0.85[EUR][1000 genomes]
rs952360	0.88[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1038841	chr12:123757305-124087671	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
2	nsv541622	chr12:123757305-124087671	Enhancers Strong transcription Genic enhancers Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
3	nsv1050598	chr12:123991646-124214332	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
4	nsv541623	chr12:123991646-124214332	Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
5	nsv498024	chr12:123994372-124459856	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
6	esv2422416	chr12:124009676-124085689	Strong transcription Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
7	nsv1042181	chr12:124037400-124152950	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 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	chr12:124066400-124070000	Active TSS	iPS-15b Cell Line	embryonic stem cell
2	chr12:124066600-124068200	Flanking Active TSS	Thymus	Thymus
3	chr12:124066600-124068200	Flanking Active TSS	Dnd41	blood
4	chr12:124066800-124068200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
5	chr12:124066800-124069200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr12:124066800-124069800	Active TSS	HSMM	muscle
7	chr12:124066800-124070000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr12:124066800-124070000	Active TSS	HUES48 Cell Line	embryonic stem cell
9	chr12:124066800-124070000	Active TSS	HUES6 Cell Line	embryonic stem cell
10	chr12:124067000-124068200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
11	chr12:124067000-124068200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr12:124067000-124068200	Flanking Active TSS	Liver	Liver
13	chr12:124067000-124068200	Flanking Active TSS	Duodenum Mucosa	Duodenum
14	chr12:124067000-124068200	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
15	chr12:124067000-124068200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
16	chr12:124067000-124068200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
17	chr12:124067000-124068200	Flanking Active TSS	Stomach Smooth Muscle	stomach
18	chr12:124067000-124068800	Active TSS	Right Atrium	heart
19	chr12:124067000-124069800	Active TSS	Rectal Smooth Muscle	rectum
20	chr12:124067000-124070000	Active TSS	ES-I3 Cell Line	embryonic stem cell
21	chr12:124067000-124070000	Active TSS	iPS-20b Cell Line	embryonic stem cell
22	chr12:124067000-124070400	Active TSS	HUES64 Cell Line	embryonic stem cell
23	chr12:124067200-124068200	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
24	chr12:124067200-124069800	Active TSS	Pancreatic Islets	Pancreatic Islet
25	chr12:124067200-124070000	Active TSS	H9 Cell Line	embryonic stem cell
26	chr12:124067200-124070400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr12:124067200-124070600	Active TSS	iPS-18 Cell Line	embryonic stem cell
28	chr12:124067400-124068200	Flanking Active TSS	Brain Hippocampus Middle	brain
29	chr12:124067400-124068200	Enhancers	Fetal Brain Male	brain
30	chr12:124067400-124068400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
31	chr12:124067400-124069800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr12:124067400-124069800	Active TSS	NHEK	skin
33	chr12:124067400-124070000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr12:124067400-124070000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr12:124067400-124070000	Active TSS	HMEC	breast
36	chr12:124067400-124070000	Active TSS	NHDF-Ad	bronchial
37	chr12:124067400-124070200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr12:124067400-124070200	Active TSS	A549	lung
39	chr12:124067400-124070800	Active TSS	NHLF	lung
40	chr12:124067600-124068200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
41	chr12:124067600-124068200	Flanking Active TSS	Adipose Nuclei	Adipose
42	chr12:124067600-124068200	Flanking Active TSS	Brain Germinal Matrix	brain
43	chr12:124067600-124068200	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
44	chr12:124067600-124068200	Flanking Active TSS	Fetal Muscle Leg	muscle
45	chr12:124067600-124068200	Flanking Active TSS	Fetal Thymus	thymus
46	chr12:124067600-124068200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
47	chr12:124067600-124068200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
48	chr12:124067600-124068400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr12:124067600-124069200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr12:124067600-124069600	Active TSS	HepG2	liver

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