Variant report

Variant	rs17002339
Chromosome Location	chr4:77952932-77952933
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr4:77952873-77953026	ProgFib	skin:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr4:77947529..77949938-chr4:77951734..77954656,2	K562	blood:
2	chr4:77952881..77954867-chr4:77957235..77958797,2	K562	blood:
3	chr4:77938334..77942143-chr4:77950747..77953977,4	K562	blood:

Variant related genes	Relation type
SEPT11	TF binding region
ENSG00000138758	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10002443	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10006033	1.00[CHB][hapmap];0.83[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs10031961	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10470896	0.90[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10856952	0.90[CHB][hapmap];0.83[JPT][hapmap]
rs11559161	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12186	1.00[CHB][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap];0.81[ASN][1000 genomes]
rs16996592	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17002332	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17002334	1.00[CHB][hapmap];0.92[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17002336	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17002346	1.00[CHB][hapmap];0.92[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2279711	0.80[CHB][hapmap];0.85[EUR][1000 genomes]
rs28541859	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28587298	0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28626429	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28685589	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28715145	0.86[AFR][1000 genomes]
rs4076784	0.86[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs4076785	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4252896	0.90[CHB][hapmap];0.82[JPT][hapmap]
rs4252913	1.00[CHB][hapmap];0.86[JPT][hapmap]
rs4252930	0.86[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs4557282	1.00[CHB][hapmap];0.83[JPT][hapmap]
rs4859740	0.82[JPT][hapmap]
rs6817626	1.00[CHB][hapmap];0.83[JPT][hapmap]
rs6824360	1.00[CHB][hapmap];0.92[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7667891	0.90[CHB][hapmap];0.83[JPT][hapmap]

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:77928200-77960800	Strong transcription	Fetal Intestine Large	intestine
2	chr4:77929400-77961800	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr4:77932200-77962000	Strong transcription	Fetal Brain Female	brain
4	chr4:77934000-77957400	Strong transcription	Rectal Mucosa Donor 31	rectum
5	chr4:77935800-77957800	Strong transcription	Duodenum Mucosa	Duodenum
6	chr4:77935800-77960800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr4:77936000-77957600	Strong transcription	Primary hematopoietic stem cells	blood
8	chr4:77936000-77959200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr4:77936200-77961800	Strong transcription	Skeletal Muscle Female	skeletal muscle
10	chr4:77937400-77981400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr4:77939800-77960800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
12	chr4:77940000-77956800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr4:77942800-77961000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr4:77943200-77954600	Weak transcription	Brain Substantia Nigra	brain
15	chr4:77943800-77969200	Weak transcription	Stomach Mucosa	stomach
16	chr4:77944000-77955800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr4:77944000-77957600	Strong transcription	Duodenum Smooth Muscle	Duodenum
18	chr4:77944000-77962800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr4:77944200-77953200	Strong transcription	Fetal Stomach	stomach
20	chr4:77944200-77956200	Strong transcription	HMEC	breast
21	chr4:77944200-77956400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
22	chr4:77944200-77957200	Strong transcription	Stomach Smooth Muscle	stomach
23	chr4:77944200-77961200	Strong transcription	Placenta	Placenta
24	chr4:77944200-77983200	Weak transcription	Small Intestine	intestine
25	chr4:77944400-77954800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr4:77944400-77956000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr4:77944400-77956200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr4:77944400-77956800	Strong transcription	Cortex derived primary cultured neurospheres	brain
29	chr4:77944400-77957000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr4:77944400-77957400	Strong transcription	Adipose Nuclei	Adipose
31	chr4:77944400-77957600	Strong transcription	HUES48 Cell Line	embryonic stem cell
32	chr4:77944400-77959800	Strong transcription	HUES64 Cell Line	embryonic stem cell
33	chr4:77944400-77960800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr4:77944400-77965400	Weak transcription	Fetal Heart	heart
35	chr4:77945000-77960000	Strong transcription	HUES6 Cell Line	embryonic stem cell
36	chr4:77945000-77960200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr4:77945000-77962600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr4:77945000-77962800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr4:77945400-77960800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr4:77945600-77955800	Strong transcription	NHLF	lung
41	chr4:77945600-77958400	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr4:77945600-77962600	Strong transcription	Fetal Muscle Leg	muscle
43	chr4:77946000-77954200	Weak transcription	Colonic Mucosa	Colon
44	chr4:77946000-77955200	Strong transcription	Fetal Kidney	kidney
45	chr4:77946000-77956200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
46	chr4:77946000-77965000	Weak transcription	Esophagus	oesophagus
47	chr4:77946000-77971800	Strong transcription	Fetal Muscle Trunk	muscle
48	chr4:77947400-77955200	Weak transcription	Skeletal Muscle Male	skeletal muscle
49	chr4:77947800-77953000	Strong transcription	Muscle Satellite Cultured Cells	--
50	chr4:77947800-77954600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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