Variant report

Variant	rs11848820
Chromosome Location	chr14:69658733-69658734
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:175)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:175 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr14:69658044-69658803	A549	lung:	n/a	n/a
2	ZNF384	chr14:69658657-69658784	K562	blood:	n/a	n/a
3	YY1	chr14:69657814-69658864	ECC-1	luminal epithelium:	n/a	chr14:69658132-69658140 chr14:69658131-69658143
4	RFX5	chr14:69657893-69658986	Hela-S3	cervix:	n/a	n/a
5	MAX	chr14:69658030-69658869	K562	blood:	n/a	n/a
6	MAX	chr14:69657982-69658748	A549	lung:	n/a	n/a
7	E2F6	chr14:69658469-69658996	A549	lung:	n/a	n/a
8	SIN3AK20	chr14:69657903-69658795	H1-hESC	embryonic stem cell:	n/a	n/a
9	BACH1	chr14:69658629-69658757	H1-hESC	embryonic stem cell:	n/a	n/a
10	GABPA	chr14:69658615-69658878	H1-hESC	embryonic stem cell:	n/a	n/a
11	POLR2A	chr14:69657912-69658843	HepG2	liver:	n/a	n/a
12	NR2F2	chr14:69657900-69659020	MCF-7	breast:	n/a	n/a
13	ZC3H11A	chr14:69658624-69658752	K562	blood:	n/a	n/a
14	POLR2A	chr14:69657808-69658861	GM12892	blood:	n/a	n/a
15	CHD1	chr14:69658624-69658836	H1-hESC	embryonic stem cell:	n/a	n/a
16	REST	chr14:69657851-69658929	H1-neurons	neurons:	n/a	chr14:69658472-69658485
17	EGR1	chr14:69657792-69659055	HCT-116	colon:	n/a	chr14:69658496-69658510 chr14:69658500-69658509 chr14:69658397-69658407 chr14:69658499-69658512 chr14:69658567-69658581
18	POLR2A	chr14:69657946-69658845	HCT-116	colon:	n/a	n/a
19	CREB1	chr14:69657933-69658854	H1-hESC	embryonic stem cell:	n/a	n/a
20	TCF7L2	chr14:69658003-69658766	HCT-116	colon:	n/a	n/a
21	MYC	chr14:69657944-69658835	K562	blood:	n/a	n/a
22	MAX	chr14:69657912-69658965	HepG2	liver:	n/a	n/a
23	POLR2A	chr14:69657846-69658934	H1-hESC	embryonic stem cell:	n/a	n/a
24	POLR2A	chr14:69657988-69658861	A549	lung:	n/a	n/a
25	MAX	chr14:69657938-69658870	H1-hESC	embryonic stem cell:	n/a	n/a
26	JUND	chr14:69657975-69658873	K562	blood:	n/a	n/a
27	SIN3AK20	chr14:69658558-69658859	K562	blood:	n/a	n/a
28	POLR2A	chr14:69657858-69658921	K562	blood:	n/a	n/a
29	NRF1	chr14:69658687-69658966	H1-hESC	embryonic stem cell:	n/a	n/a
30	SIN3AK20	chr14:69657830-69659005	MCF-7	breast:	n/a	n/a
31	HCFC1	chr14:69657873-69658776	K562	blood:	n/a	n/a
32	JUND	chr14:69657978-69658894	H1-hESC	embryonic stem cell:	n/a	n/a
33	TCF12	chr14:69657917-69658880	H1-hESC	embryonic stem cell:	n/a	chr14:69658158-69658165
34	ZNF263	chr14:69657995-69658886	HEK293-T-REx	kidney:	n/a	n/a
35	MAX	chr14:69657907-69658847	K562	blood:	n/a	n/a
36	ZBTB7A	chr14:69657937-69658789	ECC-1	luminal epithelium:	n/a	chr14:69658436-69658444
37	POLR2A	chr14:69657952-69658772	HCT-116	colon:	n/a	n/a
38	MAX	chr14:69657880-69658924	A549	lung:	n/a	n/a
39	SMARCB1	chr14:69658034-69658878	Hela-S3	cervix:	n/a	n/a
40	E2F4	chr14:69658556-69658886	MCF10A-Er-Src	breast:	n/a	n/a
41	POLR2A	chr14:69657881-69658920	Hela-S3	cervix:	n/a	n/a
42	RCOR1	chr14:69657979-69658825	K562	blood:	n/a	n/a
43	MAX	chr14:69657921-69658891	Hela-S3	cervix:	n/a	n/a
44	TCF3	chr14:69658599-69658815	GM12878	blood:	n/a	n/a
45	POLR2A	chr14:69657917-69658875	H1-hESC	embryonic stem cell:	n/a	n/a
46	MAX	chr14:69657912-69658942	ECC-1	luminal epithelium:	n/a	n/a
47	JUN	chr14:69657644-69659070	K562	blood:	n/a	chr14:69659044-69659053
48	NR2F2	chr14:69657911-69658849	K562	blood:	n/a	n/a
49	CHD2	chr14:69657935-69658858	Hela-S3	cervix:	n/a	chr14:69658475-69658485 chr14:69658496-69658506
50	HDAC2	chr14:69657789-69658966	MCF-7	breast:	n/a	chr14:69657865-69657879

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:69658612..69659449-chr19:49468529..49469044,2	Hela-S3	cervix:
2	chr14:69614281..69621283-chr14:69656459..69660724,14	MCF-7	breast:
3	chr14:69658439..69659153-chr17:57914787..57915300,2	Hela-S3	cervix:
4	chr14:69616829..69621784-chr14:69657152..69660113,5	K562	blood:
5	chr14:69658198..69659814-chr14:69694580..69696739,2	K562	blood:
6	chr14:69658144..69660515-chr17:56072182..56074557,2	MCF-7	breast:
7	chr14:69618275..69624022-chr14:69655650..69660294,14	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DCAF5-1	chr14:69658613-69658809	ENSG00000258957
2	lnc-GALNTL1-5	chr14:69658530-69658756	NONHSAT037513

No data

Variant related genes	Relation type
ENSG00000258957	TF binding region
ENSG00000087086	Chromatin interaction
ENSG00000081177	Chromatin interaction
ENSG00000062716	Chromatin interaction
ENSG00000139990	Chromatin interaction
ENSG00000264112	Chromatin interaction

Extended variants
information (count: 82 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:82)

rs_ID	r²[population]
rs10133226	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10133341	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10134554	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10139153	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10139274	0.87[CEU][hapmap];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10150493	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11158794	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11158796	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1147468	1.00[ASN][1000 genomes]
rs1147478	0.92[CEU][hapmap];0.84[EUR][1000 genomes]
rs1147479	0.92[CEU][hapmap];0.84[EUR][1000 genomes]
rs1275405	0.92[CEU][hapmap];0.84[EUR][1000 genomes]
rs1275408	0.92[CEU][hapmap];0.84[EUR][1000 genomes]
rs1275409	0.84[EUR][1000 genomes]
rs1275410	0.87[CEU][hapmap];0.84[EUR][1000 genomes]
rs1275411	0.92[CEU][hapmap];0.81[EUR][1000 genomes]
rs1275412	0.81[EUR][1000 genomes]
rs1275418	0.84[EUR][1000 genomes]
rs1275420	0.96[CEU][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12887465	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12888526	0.99[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1464307	0.81[CEU][hapmap]
rs1710988	0.96[CEU][hapmap];0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17836065	0.92[CEU][hapmap]
rs17836099	0.92[CEU][hapmap];0.84[EUR][1000 genomes]
rs1890942	1.00[ASN][1000 genomes]
rs1890943	0.84[CEU][hapmap];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1890944	0.89[CEU][hapmap];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1959759	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1965449	0.84[CEU][hapmap];0.81[EUR][1000 genomes]
rs2014607	0.92[CEU][hapmap];0.84[EUR][1000 genomes]
rs2090711	0.81[CEU][hapmap];0.83[YRI][hapmap];0.99[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2090712	0.88[CEU][hapmap];0.83[YRI][hapmap];0.99[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2096023	0.92[CEU][hapmap];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2102923	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2102924	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2153531	1.00[ASN][1000 genomes]
rs2185490	1.00[ASN][1000 genomes]
rs2331953	0.92[CEU][hapmap];0.86[YRI][hapmap];0.99[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2331954	0.81[CEU][hapmap];0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2331955	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2331957	1.00[ASN][1000 genomes]
rs35632281	0.84[EUR][1000 genomes]
rs35686041	1.00[ASN][1000 genomes]
rs3742899	0.92[CEU][hapmap];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4243633	0.92[CEU][hapmap];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4326982	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4899284	0.90[CEU][hapmap];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4899289	0.88[CEU][hapmap];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4899292	0.82[CEU][hapmap]
rs4902699	0.92[CEU][hapmap];0.95[YRI][hapmap];0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4902702	0.84[CEU][hapmap];0.80[AMR][1000 genomes]
rs4902703	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4902704	0.89[CEU][hapmap];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4902708	1.00[ASN][1000 genomes]
rs4902712	1.00[ASN][1000 genomes]
rs61980269	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs61981647	0.84[EUR][1000 genomes]
rs61981648	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61981649	0.84[EUR][1000 genomes]
rs6573875	0.92[CEU][hapmap];0.95[YRI][hapmap];0.80[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6573876	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6573877	0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71102629	0.80[EUR][1000 genomes]
rs7148953	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7150127	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7150195	1.00[ASN][1000 genomes]
rs7151090	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7151331	0.89[CEU][hapmap];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7151827	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7157772	1.00[CEU][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7158145	0.96[CEU][hapmap];0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7159186	0.89[CEU][hapmap];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8004722	1.00[ASN][1000 genomes]
rs8007859	0.92[CEU][hapmap];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs8008401	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8008878	1.00[ASN][1000 genomes]
rs8016075	1.00[ASN][1000 genomes]
rs8017744	0.87[CEU][hapmap];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs897325	1.00[ASN][1000 genomes]
rs897327	1.00[ASN][1000 genomes]
rs897328	1.00[ASN][1000 genomes]

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:69657400-69659600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
2	chr14:69657600-69658800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr14:69657600-69658800	Active TSS	Primary T helper cells PMA-I stimulated	--
4	chr14:69657600-69658800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr14:69657600-69659000	Active TSS	Primary hematopoietic stem cells	blood
6	chr14:69657600-69659000	Active TSS	Fetal Brain Male	brain
7	chr14:69657600-69659200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
8	chr14:69657600-69659400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr14:69657600-69659400	Active TSS	Pancreatic Islets	Pancreatic Islet
10	chr14:69657600-69659400	Active TSS	Rectal Mucosa Donor 29	rectum
11	chr14:69657600-69659400	Flanking Bivalent TSS/Enh	Dnd41	blood
12	chr14:69657600-69659400	Active TSS	K562	blood
13	chr14:69657600-69659600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr14:69657600-69659600	Active TSS	Fetal Brain Female	brain
15	chr14:69657600-69659600	Active TSS	A549	lung
16	chr14:69657800-69658800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
17	chr14:69657800-69658800	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
18	chr14:69657800-69658800	Active TSS	Primary T helper naive cells from peripheral blood	blood
19	chr14:69657800-69658800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr14:69657800-69658800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr14:69657800-69658800	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
22	chr14:69657800-69658800	Active TSS	Fetal Lung	lung
23	chr14:69657800-69658800	Active TSS	Rectal Smooth Muscle	rectum
24	chr14:69657800-69658800	Active TSS	HSMM	muscle
25	chr14:69657800-69658800	Active TSS	NH-A	brain
26	chr14:69657800-69658800	Active TSS	Osteobl	bone
27	chr14:69657800-69659000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr14:69657800-69659000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr14:69657800-69659000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr14:69657800-69659000	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
31	chr14:69657800-69659000	Active TSS	Brain Substantia Nigra	brain
32	chr14:69657800-69659000	Active TSS	Fetal Heart	heart
33	chr14:69657800-69659000	Active TSS	Fetal Intestine Small	intestine
34	chr14:69657800-69659000	Active TSS	Rectal Mucosa Donor 31	rectum
35	chr14:69657800-69659000	Active TSS	GM12878-XiMat	blood
36	chr14:69657800-69659200	Active TSS	iPS-18 Cell Line	embryonic stem cell
37	chr14:69657800-69659200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr14:69657800-69659200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr14:69657800-69659200	Active TSS	Brain Anterior Caudate	brain
40	chr14:69657800-69659200	Active TSS	Colonic Mucosa	Colon
41	chr14:69657800-69659200	Active TSS	Colon Smooth Muscle	Colon
42	chr14:69657800-69659200	Active TSS	Duodenum Smooth Muscle	Duodenum
43	chr14:69657800-69659200	Active TSS	Fetal Intestine Large	intestine
44	chr14:69657800-69659200	Active TSS	Fetal Kidney	kidney
45	chr14:69657800-69659200	Active TSS	Fetal Stomach	stomach
46	chr14:69657800-69659200	Active TSS	Right Atrium	heart
47	chr14:69657800-69659200	Active TSS	Thymus	Thymus
48	chr14:69657800-69659200	Active TSS	Hela-S3	cervix
49	chr14:69657800-69659200	Active TSS	HepG2	liver
50	chr14:69657800-69659200	Active TSS	HSMMtube	muscle

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