Variant report

Variant	rs68111914
Chromosome Location	chr4:6986677-6986678
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:5)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:5 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOXA1	chr4:6986422-6986805	HepG2	liver:	n/a	n/a
2	MAZ	chr4:6986602-6986721	HepG2	liver:	n/a	n/a
3	POLR2A	chr4:6986600-6986797	Hela-S3	cervix:	n/a	n/a
4	POLR2A	chr4:6986481-6987144	K562	blood:	n/a	n/a
5	POLR2A	chr4:6986599-6987557	MCF10A-Er-Src	breast:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:6980739..6983289-chr4:6985192..6987029,3	K562	blood:
2	chr4:6985775..6987930-chr4:7003466..7005254,2	MCF-7	breast:
3	chr4:6964388..6966131-chr4:6985503..6987290,2	K562	blood:
4	chr4:6981170..6985080-chr4:6985804..6988739,4	MCF-7	breast:
5	chr4:6979186..6983074-chr4:6985701..6987912,3	K562	blood:

No data

Variant related genes	Relation type
TBC1D14	TF binding region

Extended variants
information (count: 67 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:65)

rs_ID	r²[population]
rs1048009	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28384174	1.00[ASN][1000 genomes]
rs28729690	1.00[ASN][1000 genomes]
rs41410847	1.00[ASN][1000 genomes]
rs55633489	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55659111	0.82[EUR][1000 genomes]
rs55672215	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55740475	0.82[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs55833486	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55913461	0.82[EUR][1000 genomes]
rs55942328	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56031152	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56074877	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56081162	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56094305	0.82[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs56097119	0.87[EUR][1000 genomes]
rs56178503	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs56300156	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56320732	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56350643	0.82[EUR][1000 genomes]
rs56400338	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56903115	1.00[ASN][1000 genomes]
rs57454756	1.00[ASN][1000 genomes]
rs59683609	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs59742225	1.00[ASN][1000 genomes]
rs59809420	1.00[ASN][1000 genomes]
rs60048916	0.99[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs66519732	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs66573146	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66611116	1.00[ASN][1000 genomes]
rs66645969	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66712119	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs66734745	1.00[ASN][1000 genomes]
rs66808450	0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs66819208	1.00[ASN][1000 genomes]
rs66905212	1.00[ASN][1000 genomes]
rs66978412	0.82[AFR][1000 genomes]
rs67067921	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67245546	1.00[ASN][1000 genomes]
rs67252699	0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs67315413	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67321746	1.00[ASN][1000 genomes]
rs67405518	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs67702333	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67750430	1.00[ASN][1000 genomes]
rs67922134	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs67998004	0.82[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs6812391	0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6812771	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs68169399	1.00[ASN][1000 genomes]
rs6838042	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6838250	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6841389	0.82[EUR][1000 genomes]
rs6851488	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6855531	1.00[ASN][1000 genomes]
rs73088528	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73088564	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73199995	0.84[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73202120	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73202122	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7668802	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7675281	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7686168	0.80[AFR][1000 genomes];0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7686186	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9942188	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv878530	chr4:6888932-7058473	Strong transcription Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	esv34033	chr4:6973270-7390621	Weak transcription Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:6965400-6987800	Weak transcription	Small Intestine	intestine
2	chr4:6968000-6987600	Weak transcription	HSMM	muscle
3	chr4:6970800-6987800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr4:6976200-6987800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr4:6976400-6987800	Weak transcription	Fetal Thymus	thymus
6	chr4:6976600-6987000	Weak transcription	Fetal Kidney	kidney
7	chr4:6976600-6987400	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr4:6976600-6987600	Weak transcription	Thymus	Thymus
9	chr4:6982200-6987200	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr4:6985000-6986800	Enhancers	Primary B cells from cord blood	blood
11	chr4:6985000-6986800	Enhancers	Spleen	Spleen
12	chr4:6985000-6987800	Enhancers	Primary monocytes fromperipheralblood	blood
13	chr4:6985000-6987800	Enhancers	Primary B cells from peripheral blood	blood
14	chr4:6985200-6986800	Enhancers	Lung	lung
15	chr4:6985200-6986800	Enhancers	Psoas Muscle	Psoas
16	chr4:6985200-6987000	Enhancers	Primary hematopoietic stem cells	blood
17	chr4:6985200-6987200	Enhancers	Primary hematopoietic stem cells short term culture	blood
18	chr4:6985200-6987200	Enhancers	K562	blood
19	chr4:6985200-6987400	Enhancers	Liver	Liver
20	chr4:6985200-6987400	Enhancers	Rectal Mucosa Donor 29	rectum
21	chr4:6985200-6987600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
22	chr4:6985200-6987800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
23	chr4:6985400-6987600	Enhancers	Primary T helper cells PMA-I stimulated	--
24	chr4:6985400-6987600	Enhancers	Primary T helper cells fromperipheralblood	blood
25	chr4:6985600-6987600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
26	chr4:6985600-6987600	Enhancers	Adipose Nuclei	Adipose
27	chr4:6985600-6987600	Enhancers	Fetal Intestine Large	intestine
28	chr4:6985800-6986800	Enhancers	Gastric	stomach
29	chr4:6985800-6987400	Enhancers	Duodenum Mucosa	Duodenum
30	chr4:6985800-6987600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
31	chr4:6985800-6987800	Enhancers	Rectal Mucosa Donor 31	rectum
32	chr4:6986000-6986800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
33	chr4:6986000-6986800	Enhancers	Fetal Muscle Trunk	muscle
34	chr4:6986000-6986800	Enhancers	Fetal Muscle Leg	muscle
35	chr4:6986000-6986800	Enhancers	Pancreas	Pancrea
36	chr4:6986000-6986800	Enhancers	Right Ventricle	heart
37	chr4:6986000-6987200	Enhancers	Dnd41	blood
38	chr4:6986000-6987400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr4:6986000-6987400	Enhancers	Brain Substantia Nigra	brain
40	chr4:6986000-6987400	Enhancers	Duodenum Smooth Muscle	Duodenum
41	chr4:6986000-6987400	Enhancers	HUVEC	blood vessel
42	chr4:6986000-6987600	Enhancers	Primary neutrophils fromperipheralblood	blood
43	chr4:6986000-6987600	Enhancers	Primary T killer memory cells from peripheral blood	blood
44	chr4:6986000-6987600	Enhancers	Cortex derived primary cultured neurospheres	brain
45	chr4:6986000-6987600	Enhancers	Fetal Heart	heart
46	chr4:6986000-6987800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
47	chr4:6986000-6987800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
48	chr4:6986000-6988000	Flanking Active TSS	Brain Anterior Caudate	brain
49	chr4:6986200-6986800	Enhancers	Primary T cells fromperipheralblood	blood
50	chr4:6986200-6986800	Active TSS	Fetal Brain Female	brain

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